Endovascular therapy in patients with genetically triggered thoracic aortic disease: applications and short- and mid-term outcomes.

Objectives: For patients with genetically triggered thoracic aortic disease, the morbidity and mortality associated with reoperation are high, making endovascular treatment an appealing option. We evaluated the short- and mid-term outcomes of different applications of endovascular intervention in such patients.

Methods: Between January 2003 and April 2013, 60 patients received endovascular or hybrid treatment for genetically triggered thoracic aortic disease. The inclusion criteria were based on those devised by the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions. We included patients with thoracic aneurysm or dissection not due to trauma in a patient aged ≤50 years (n = 30), bicuspid aortic valve (BAV) and coarctation (n = 11), Marfan syndrome (n = 10), BAV with thoracic aneurysm (n = 4), Loeys-Dietz syndrome (n = 3), familial thoracic aneurysm or dissection (n = 3) and genetic mutations (n = 2). Some patients met more than one inclusion criterion. Forty-one (68.3%) patients were treated with only endovascular stent grafting. Nineteen (31.7%) patients underwent a hybrid procedure with open proximal or total arch replacement and concomitant endovascular stenting of the aortic arch or the descending thoracic aorta. Twenty-nine (48.3%) had previous cardiovascular operations (mean ± SD, 1.9 ± 1.4) before undergoing hybrid or endovascular therapy. The median follow-up was 2.3 years (interquartile interval 25-75%, 1.4-4.6 years).

Results: The technical success rate was 100%. In-hospital mortality was 3.3% (n = 2) and neurological events occurred in 2 patients; 1 (1.6%) had a stroke and 1 (1.6%) suffered paraparesis with partial recovery. Fifteen repeat open or endovascular interventions were required in 10 surviving patients (17.2%). Overall survival during follow-up was 94.8% (55/58).

Conclusions: Endovascular technology can be helpful in treating selected young patients with genetically triggered thoracic aortic disease. Long-term studies and further evolution of endovascular technology will be necessary for it to be incorporated into the armamentarium of surgical options for this challenging patient population.